Variant report

Variant	rs4916414
Chromosome Location	chr1:171151790-171151791
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12691471	0.92[ASN][1000 genomes]
rs12691472	0.89[ASN][1000 genomes]
rs12730113	0.82[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12752688	1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13376335	0.82[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1883166	0.89[ASN][1000 genomes]
rs2307492	0.82[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs28369794	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28369829	0.89[ASN][1000 genomes]
rs28369833	0.89[ASN][1000 genomes]
rs28369864	0.89[ASN][1000 genomes]
rs28369870	0.89[ASN][1000 genomes]
rs28369882	0.89[ASN][1000 genomes]
rs34425609	0.92[ASN][1000 genomes]
rs35092378	1.00[ASN][1000 genomes]
rs35473668	1.00[ASN][1000 genomes]
rs35627685	1.00[ASN][1000 genomes]
rs3754493	1.00[ASN][1000 genomes]
rs4916183	0.82[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4916243	0.89[ASN][1000 genomes]
rs4916415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56726407	0.92[ASN][1000 genomes]
rs6660641	0.89[ASN][1000 genomes]
rs6678123	1.00[ASN][1000 genomes]
rs66893691	0.92[ASN][1000 genomes]
rs6697122	1.00[ASN][1000 genomes]
rs67794719	0.82[ASN][1000 genomes]
rs73028690	0.92[ASN][1000 genomes]
rs7516877	0.82[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7545752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7548111	1.00[ASN][1000 genomes]
rs7886546	0.92[ASN][1000 genomes]
rs7890067	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4916414	LRRC52	cis	parietal	SCAN
rs4916414	METTL13	cis	cerebellum	SCAN
rs4916414	RP1-127D3.4	cis	Artery Tibial	GTEx
rs4916414	FMO2	cis	parietal	SCAN
rs4916414	FMO2	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171143800-171153200	Weak transcription	Fetal Lung	lung
2	chr1:171148200-171153400	Weak transcription	Aorta	Aorta
3	chr1:171150600-171152000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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